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1 alpha-L-iduronidase deficiency
Универсальный англо-русский словарь > alpha-L-iduronidase deficiency
См. также в других словарях:
Iduronidase — protein Name = iduronidase, α L caption = width = HGNCid = 5391 Symbol = IDUA AltSymbols = EntrezGene = 3425 OMIM = 252800 RefSeq = NM 000203 UniProt = P35475 PDB = ECnumber = 3.2.1.76 Chromosome = 4 Arm = p Band = 16.3 LocusSupplementaryData =… … Wikipedia
List of diseases (A) — A listing of diseases.DiseasesTOC Aa Ab* Aagenaes syndrome * Aarskog Ose Pande syndrome * Aarskog syndrome * Aase Smith syndrome * Aase syndrome * ABCD syndrome * Abasia * Abdallat Davis Farrage syndrome * Abdominal aortic aneurysm * Abdominal… … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Prominent metabolic diseases — ▪ Table Prominent metabolic diseases disorder cause signs and symptoms treatment cystinosis lysosomal cystine transporter defect rickets, dehydration, stunted growth, kidney disease, corneal deposits supportive therapy, cysteamine, kidney… … Universalium
Mucopolysaccharidosis — MPS I redirects here. For zhuyin or bopomofo, a phonetic system for romanizing Chinese, also known as Mandarin Phonetic Symbols I, see Bopomofo. Mucopolysaccharidosis Classification and external resources ICD 10 E76 ICD 9 … Wikipedia
Hurler syndrome — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… … Medical dictionary
Syndrome, Hurler — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… … Medical dictionary
Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 … Wikipedia
NAGA (gene) — N acetylgalactosaminidase, alpha Rendering based on PDB 3H53 … Wikipedia
MPS (mucopolysaccharidosis) — One of a series of inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. The deposition of… … Medical dictionary
Mucopolysaccharidosis (MPS) — One of a series of inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. The deposition of… … Medical dictionary